DEFINITION:

A multisystem disorder characterized by progressive ataxia and neurologic, cardiac, musculoskeletal, and endocrine manifestations.

EPIDEMIOLOGY:

• incidence: 1/100,000 live births
• age of onset:
  • usually prior to 10 years of age (but as late as 16 years)
• risk factors:
  • familial - autosomal recessive
    • chrom.#: 9q13-q21.1
    • gene: frataxin
  • clinical features similar in members of same family
  • heterozygotes are phenotypically normal

PATHOGENESIS:

• genetic defect -> impaired expression of frataxin -> accumulation of iron within the mitochondria of affected cells -> production of free radicals within the affected cells -> cell death -> phenotypic expression in the nervous system (CNS and peripheral nerves), cardiac tissue and pancreas

CLINICAL FEATURES:

INVESTIGATIONS:

MANAGEMENT:

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